Leyre Riancho-Zarrabeitiaemail and colleagues present a study on Low serum levels of alkaline phosphatase (ALP) that are a hallmark of hypophosphatasia. They performed a clinical, biochemical and genetic study of 42 individuals with unexplained low ALP levels to clarify the underlying genetics of low ALP. They showed that one-half of adult individuals with unexplained low serum ALP carried an ALPL mutation.
Riancho-Zarrabeitia, Leyre et al. European Journal of Internal Medicine.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague